A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1233



Internal ID15544495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:20050327..20644470hg38UCSC Ensembl
Outerchr15:20255580..20849772hg19UCSC Ensembl
Outerchr15:18515594..19109786hg18UCSC Ensembl
Outerchr15:18515594..19109786hg17UCSC Ensembl
Cytoband15q11.1
Allele length
AssemblyAllele length
hg38594144
hg19594193
hg18594193
hg17594193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1452
Supporting Variants
SamplesNA19240
Known GenesCHEK2P2, GOLGA6L6, GOLGA8CP, HERC2P3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv1233
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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